Women's Health and Genetics/Laboratory Corporation of America (LabCorp), WHG-LC

General information

Women's Health and Genetics/Laboratory Corporation of America, WHG-LC
LabCorp
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 22950

Gene

GeneSubmissionsLast Updated
A2ML1179Jan 6, 2022
ABCA163Jan 6, 2022
ABCA121Jan 6, 2022
ABCA43Apr 29, 2020
ABCA71Dec 21, 2021
ABCB115Jan 6, 2022
ABCB46Jan 6, 2022
ABCC871Jan 6, 2022
ABCC946Jan 6, 2022
ABCD123Jan 6, 2022
ABCD45Jan 6, 2022
ABRAXAS166Jan 6, 2022
ACAD94Jan 6, 2022
ACADM31Jan 6, 2022
ACADVL43Jan 6, 2022
ACAT114Dec 21, 2021
ACER32Mar 6, 2020
ACOX12Jan 6, 2022
ACSF35Jan 6, 2022
ACSL42Sep 9, 2020
ACTA212Dec 21, 2021
ACTA2-AS13Nov 10, 2020
ACTB1Oct 22, 2021
ACTC127May 19, 2021
ACTN243Dec 21, 2021
ACVRL14Aug 5, 2021
ACYP11Jan 25, 2018
ADA20Jan 6, 2022
ADA21Dec 2, 2020
ADAMTS131May 19, 2021
ADAMTS228Dec 21, 2021
ADAMTSL21Apr 29, 2020
ADAR1Dec 21, 2021
ADAT32Dec 31, 2020
ADGRG61Jul 1, 2020
ADGRV19Dec 21, 2021
ADRA2B1Mar 6, 2020
AFF22Mar 6, 2020
AFF41Aug 6, 2020
AFG3L21Dec 21, 2021
AGA4Dec 21, 2021
AGL36Jan 6, 2022
AGXT24Jan 6, 2022
AHI11Jan 6, 2022
AICDA5Jul 9, 2020
AIFM12Jul 1, 2020
AIPL11Jan 6, 2022
AIRE33Dec 21, 2021
AK24Nov 16, 2021
AKAP976Jan 6, 2022
AKT31Mar 6, 2020
ALDH3A218Jan 6, 2022
ALDH5A11Apr 7, 2021
ALDOB17Jan 6, 2022
ALG11Jan 6, 2022
ALG111Aug 18, 2011
ALG122Oct 6, 2020
ALG131Mar 6, 2020
ALG22May 13, 2020
ALG63Jan 6, 2022
ALK32Jan 6, 2022
ALMS1160Jan 6, 2022
ALOXE31Jan 6, 2022
ALPL39Jan 6, 2022
AMPD22May 19, 2021
AMT7Jan 6, 2022
ANK2105Jan 6, 2022
ANK31Apr 7, 2021
ANKRD111Jan 25, 2018
ANKRD111Mar 6, 2020
ANOS11Oct 6, 2020
ANTXR22Jan 6, 2022
AOPEP29Dec 21, 2021
AP4B11Mar 6, 2020
AP4M12Dec 21, 2021
APBB12Sep 24, 2019
APC467Jan 6, 2022
APIP1Dec 21, 2021
APOA110Oct 22, 2021
APOA1-AS6Jun 17, 2021
APOA211Dec 31, 2020
APOA58Jan 25, 2018
APOB14Jul 7, 2021
APOC35Nov 16, 2021
APPL11Aug 5, 2021
AQP26Nov 17, 2015
AQP5-AS15Nov 17, 2015
ARG11Dec 21, 2021
ARID1A1Oct 6, 2020
ARL13B2Jan 6, 2022
ARSA38Jan 6, 2022
ARSB19Jan 6, 2022
ARSL2Apr 7, 2021
ARX3Mar 6, 2020
ASAH11Apr 29, 2020
ASB111Sep 9, 2020
ASL18Jan 6, 2022
ASPA16Apr 27, 2021
ASPH1Dec 21, 2021
ASPM3Mar 6, 2020
ASS127Jan 6, 2022
ASXL12Apr 24, 2019
ATL11Mar 6, 2020
ATM706Jan 6, 2022
ATN11Apr 29, 2020
ATP13A22Jan 6, 2022
ATP1A31Mar 6, 2020
ATP1B110Jan 6, 2022
ATP5MK1Oct 6, 2020
ATP6V0A46Jan 6, 2022
ATP6V1B16Jan 6, 2022
ATP7A2Dec 21, 2021
ATP7B234Nov 16, 2021
ATP8A22Mar 6, 2020
ATP8B16Jan 6, 2022
ATP8B1-AS12Jan 6, 2022
ATR11Jan 25, 2018
ATRIP1Jan 6, 2022
ATRIP-TREX11Jan 6, 2022
ATRX6Sep 1, 2021
AVIL1Dec 31, 2020
AVPR215Nov 17, 2015
AXDND19Jun 17, 2021
AXIN234Jan 6, 2022
B9D11Sep 1, 2021
BAG325Dec 21, 2021
BARD1152Nov 16, 2021
BBS117May 19, 2021
BBS1024Jan 6, 2022
BBS123Jan 6, 2022
BBS227Dec 21, 2021
BBS42Jan 6, 2022
BBS51Nov 16, 2021
BBS72Nov 16, 2021
BBS92Jan 6, 2022
BCHE6Jan 6, 2022
BCKDHA13Nov 16, 2021
BCKDHB25Jan 6, 2022
BCL11A1Oct 22, 2021
BCOR1Apr 24, 2019
BCORL12May 13, 2020
BCS1L5Nov 10, 2020
BIVM-ERCC59Oct 22, 2021
BLK2Jan 6, 2022
BLM61Jan 6, 2022
BLOC1S61Feb 9, 2021
BMP11Nov 16, 2021
BMPR1A68Dec 21, 2021
BRAF89Dec 21, 2021
BRCA11224Jan 6, 2022
BRCA22108Jan 6, 2022
BRIP1202Jan 6, 2022
BRPF11Apr 27, 2021
BSND2Jan 6, 2022
BTD11Jan 6, 2022
BTK40Jan 6, 2022
C10orf1052Jan 6, 2022
C11orf65252Jan 6, 2022
C12orf432Nov 10, 2020
C51Aug 5, 2021
CACNA1A2Feb 9, 2021
CACNA1C63Jan 6, 2022
CACNA1C-AS126Sep 1, 2021
CACNA1C-AS22Apr 7, 2021
CACNA1E1Mar 6, 2020
CACNA1H3Jun 17, 2021
CACNA1S8Mar 6, 2020
CACNB221Dec 21, 2021
CACNG21Apr 29, 2020
CAD3Jan 6, 2022
CALCR1Jul 7, 2021
CALR311Jan 25, 2018
CAMK41Jul 1, 2020
CAPN38Jan 6, 2022
CARD141Jan 25, 2018
CASQ215Jan 6, 2022
CASR68Jan 6, 2022
CATIP-AS21Jan 6, 2022
CAV313Jan 6, 2022
CBL69Dec 21, 2021
CBS47Jan 6, 2022
CC2D1A2Feb 26, 2021
CC2D2A1Dec 2, 2020
CCBE11Mar 6, 2020
CCDC1071Mar 6, 2020
CCDC401Jan 25, 2018
CCDC81Nov 16, 2021
CD3D1Aug 18, 2011
CD3E7Apr 24, 2019
CD408Nov 10, 2020
CD40LG10Nov 10, 2020
CD461Aug 5, 2021
CDC736Mar 6, 2020
CDH1202Jan 6, 2022
CDH239Jan 6, 2022
CDH23-AS11Jan 6, 2022
CDK132Jun 17, 2021
CDK437Jan 6, 2022
CDK5RAP11Mar 6, 2020
CDK5RAP23Dec 21, 2021
CDKN2A54Dec 21, 2021
CDKN2A-DT1Feb 9, 2021
CEL2Apr 29, 2020
CENPF2Mar 6, 2020
CEP1041Jan 6, 2022
CEP2909Jan 6, 2022
CEP85L1Mar 6, 2020
CERKL2Jan 6, 2022
CERS31Jan 6, 2022
CERS3-AS11Jan 6, 2022
CFAP4181Apr 29, 2020
CFAP921Sep 1, 2021
CFHR21Aug 5, 2021
CFHR31Aug 5, 2021
CFHR41Aug 5, 2021
CFHR52Jan 6, 2022
CFI1Aug 5, 2021
CFTR707Jan 6, 2022
CFTR-AS166Jan 6, 2022
CHAMP11Feb 26, 2021
CHAT5Jan 6, 2022
CHD21Oct 22, 2021
CHD31Nov 16, 2021
CHD41Apr 29, 2020
CHD722Jan 6, 2022
CHD82Sep 1, 2021
CHEK13Jan 25, 2018
CHEK2166Jan 6, 2022
CHMP1A1Jan 6, 2022
CHPT13Feb 26, 2021
CHRNA11Dec 31, 2020
CHRNA41Feb 9, 2021
CHRNG1Jan 6, 2022
CHST142Oct 22, 2021
CIB21Jan 6, 2022
CIC4Aug 5, 2021
CIITA1Jan 6, 2022
CLCN11Mar 6, 2020
CLCN41Apr 29, 2020
CLCN71May 13, 2020
CLCNKA2Jan 6, 2022
CLCNKB5Jan 6, 2022
CLN316Jan 6, 2022
CLN59Jan 6, 2022
CLN64Jan 6, 2022
CLN84Jan 6, 2022
CLRN16Jan 6, 2022
CLRN1-AS11Jan 25, 2018
CNKSR21Aug 5, 2021
CNTN21Dec 31, 2020
CNTNAP21Dec 21, 2021
CNTNAP51Nov 10, 2020
COBL1May 13, 2020
COL11A11Apr 29, 2020
COL12A12May 19, 2021
COL1A140Dec 31, 2020
COL1A231Mar 6, 2020
COL2A12Apr 24, 2019
COL3A188Jan 6, 2022
COL4A22Sep 1, 2021
COL4A337Jan 6, 2022
COL4A58Jan 6, 2022
COL4A61Mar 6, 2020
COL5A123Jun 17, 2021
COL5A213Mar 6, 2020
COL6A12Apr 29, 2020
COL6A21Jan 6, 2022
COL7A13Mar 6, 2020
COL9A21Jul 1, 2020
COL9A31Apr 29, 2020
COLQ1Sep 1, 2021
COQ91May 22, 2020
COX153Dec 2, 2020
CP4Jan 6, 2022
CPLANE13Apr 29, 2020
CPS123Jan 6, 2022
CPT1A1Jan 6, 2022
CPT222Jan 6, 2022
CRB21Dec 31, 2020
CRBN1Mar 6, 2020
CREBBP1Jun 17, 2021
CRLF11Oct 22, 2021
CRYBB11Oct 6, 2020
CSF2RA2Mar 6, 2020
CSRP37Nov 16, 2021
CTCF2Nov 10, 2020
CTF16Aug 5, 2021
CTNS22Jan 6, 2022
CTNS-AS18Jan 6, 2022
CTSA10Jan 6, 2022
CTSB1Dec 31, 2020
CTSD1Jan 6, 2022
CTSF3Jan 6, 2022
CTSK1Aug 5, 2021
CUX21Mar 6, 2020
CYBA3Jan 6, 2022
CYBB26Sep 1, 2021
CYP11B120Jan 6, 2022
CYP17A13Jan 6, 2022
CYP1B114Jan 6, 2022
CYP21A210Jan 6, 2022
CYP27A16Jan 6, 2022
CYP4F223Oct 22, 2021
D2HGDH1Dec 2, 2020
DBT6Jan 6, 2022
DCLRE1B1Mar 6, 2020
DCLRE1C5Sep 24, 2019
DCPS1Jan 6, 2022
DDC3Jan 6, 2022
DDX3X1May 13, 2020
DEAF11Mar 6, 2020
DEPDC52May 19, 2021
DES16Sep 1, 2021
DES-LCR1Nov 10, 2020
DGKE3Aug 5, 2021
DHCR747Jan 6, 2022
DHDDS3Oct 22, 2021
DIAPH11Dec 2, 2020
DICER11Apr 29, 2020
DLAT1Jan 6, 2022
DLD6Jan 6, 2022
DLG41Jan 25, 2018
DLL31Apr 24, 2019
DLL41Oct 6, 2020
DMD180Jan 6, 2022
DNA21Mar 6, 2020
DNAAF32Jan 6, 2022
DNAH72Mar 6, 2020
DNAJC193Apr 29, 2020
DNASE1L11Aug 18, 2011
DOCK32Sep 9, 2020
DOCK82Jan 6, 2022
DOK73Jan 6, 2022
DPAGT11Dec 21, 2021
DPM21Nov 10, 2020
DPP61Dec 2, 2020
DPYD26Jan 6, 2022
DPYD-AS13Aug 5, 2021
DSC254Jan 6, 2022
DSCAS1Sep 9, 2020
DSG248Dec 21, 2021
DSG2-AS115Aug 5, 2021
DSP139Jan 6, 2022
DSP-AS15Nov 16, 2021
DTNA28Dec 21, 2021
DTNBP11Jan 6, 2022
DUOX22Apr 24, 2019
DYNC1H11Dec 2, 2020
DYRK1A6Apr 27, 2021
DYSF10Jan 6, 2022
EDNRB1Mar 6, 2020
EDNRB-AS11Mar 6, 2020
EEF1A21Feb 26, 2021
EFEMP26Sep 1, 2021
EFHC11Mar 6, 2020
EFNB11May 13, 2020
EFNB21Mar 6, 2020
EHMT11Dec 31, 2020
EIF2B22Sep 9, 2020
EIF2B32Nov 16, 2021
EIF2B51Nov 16, 2021
ELN2Jun 17, 2021
ELP116Jan 6, 2022
EMD13Dec 21, 2021
ENG4Aug 5, 2021
EP3001Dec 2, 2020
EP4001Feb 9, 2021
EPCAM5Oct 22, 2020
EPHA31Feb 26, 2021
ERCC24Jan 6, 2022
ERCC31Apr 29, 2020
ERCC41Jan 6, 2022
ERCC59Oct 22, 2021
ERCC68Jan 6, 2022
ERCC6-PGBD31Jan 6, 2022
ERCC83Dec 21, 2021
ERMARD1Apr 24, 2019
ETFA3Jan 6, 2022
ETFDH3Jan 6, 2022
ETHE18Dec 31, 2020
EXOSC31Dec 21, 2021
EXT11Apr 24, 2019
EYA423Jan 6, 2022
EYS7Jan 6, 2022
F13A11Jan 6, 2022
FA2H2Dec 21, 2021
FAH16Feb 9, 2021
FAM111B1Nov 16, 2021
FAM20A4Mar 6, 2020
FANCA15Jan 6, 2022
FANCB1Jan 6, 2022
FANCC49Dec 21, 2021
FANCD25Jan 6, 2022
FANCG1Jan 6, 2022
FANCI5Jan 6, 2022
FANCL2Sep 1, 2021
FAT42May 13, 2020
FBN1509Jan 6, 2022
FBN218Jan 25, 2018
FBXL38Jan 6, 2022
FBXL41Jan 6, 2022
FCN31Nov 10, 2020
FCSK2Apr 29, 2020
FERMT31Mar 6, 2020
FGD12Apr 29, 2020
FGF232Aug 18, 2011
FGFR11Apr 29, 2020
FGG1Dec 21, 2021
FH10Sep 1, 2021
FHL12May 19, 2021
FKRP3Jan 6, 2022
FKTN23Dec 21, 2021
FLCN15Nov 16, 2021
FLG1Feb 9, 2021
FLNC3Aug 5, 2021
FLT42Feb 26, 2021
FOXN11Jan 6, 2022
FOXP13Sep 9, 2020
FOXP21Apr 24, 2019
FOXP33Jan 6, 2022
FOXRED13Oct 6, 2020
FRAS11Jan 6, 2022
FREM23Jan 6, 2022
FRMPD42Nov 16, 2021
FTCD1Oct 22, 2021
FUCA19Jan 6, 2022
G6PC127Jan 6, 2022
G6PD3Apr 27, 2021
GAA153Jan 6, 2022
GABRA51Dec 21, 2021
GABRQ1Apr 29, 2020
GAL3ST41Nov 10, 2020
GALC40Jan 6, 2022
GALE2Nov 16, 2021
GALK12Jan 6, 2022
GALNS33Jan 6, 2022
GALT118Jan 6, 2022
GAMT12Dec 21, 2021
GAREM211Nov 16, 2021
GATA41Sep 1, 2021
GATAD18Nov 16, 2021
GATM2Jan 6, 2022
GBA75Jan 6, 2022
GBA22Dec 31, 2020
GBE16Dec 21, 2021
GCDH29Dec 21, 2021
GCH11Dec 21, 2021
GCK126Jan 6, 2022
GDF51Jul 1, 2020
GDI12Dec 21, 2021
GEMIN52Aug 5, 2021
GFAP1Oct 22, 2021
GFI11Jun 17, 2021
GFPT12May 19, 2021
GH-LCR2Apr 29, 2020
GH11Aug 18, 2011
GHRHR4Aug 18, 2011
GINS32Mar 6, 2020
GJB11Jan 25, 2018
GJB2104Jan 6, 2022
GJD2-DT27May 19, 2021
GLA176Dec 21, 2021
GLB128Jan 6, 2022
GLDC28Jan 6, 2022
GLI11Apr 29, 2020
GLI21Mar 6, 2020
GML17Oct 18, 2019
GNAI31Apr 29, 2020
GNE5Jan 6, 2022
GNPAT2Jan 6, 2022
GNPTAB37Jan 6, 2022
GNS1Jan 25, 2018
GP91Jul 1, 2020
GPAA11Mar 6, 2020
GPC37Oct 22, 2021
GPD1L9Aug 5, 2021
GPHN1Jan 6, 2022
GREB1L1Apr 29, 2020
GRHPR9Oct 22, 2021
GRIN2A1May 19, 2021
GRIN2B2Apr 7, 2021
GRXCR11Dec 2, 2020
GSS6Apr 29, 2020
GUF12Dec 31, 2020
GUSB8Aug 6, 2020
HADHA25Nov 16, 2021
HADHB2Jul 9, 2020
HBB287Jan 6, 2022
HCFC11Jul 1, 2020
HDAC21Dec 31, 2020
HDAC83Apr 29, 2020
HEPACAM2Nov 16, 2021
HERC12Aug 5, 2021
HEXA70Jan 6, 2022
HEXB38Jan 6, 2022
HFE6Dec 21, 2021
HFE-AS13Mar 17, 2021
HGSNAT23Jan 6, 2022
HIVEP21Apr 7, 2021
HLCS11Jan 6, 2022
HMGCL8Oct 22, 2021
HNF1A53Jun 17, 2021
HNF1B24Aug 5, 2021
HNF4A40Jun 17, 2021
HOGA13Jan 6, 2022
HOPX4Mar 6, 2020
HOXB134Oct 22, 2021
HPD3Jan 6, 2022
HPS12Nov 10, 2020
HPS41Aug 5, 2021
HPS51Jan 6, 2022
HRAS40Dec 21, 2021
HSD11B21Aug 18, 2011
HSD17B410Mar 17, 2021
HSD3B22Jan 6, 2022
HSPG23Jul 1, 2020
HYAL11Jan 6, 2022
HYLS12Jan 6, 2022
IDS10May 19, 2021
IDUA55Jan 6, 2022
IFNGR111Mar 6, 2020
IFNGR24Mar 6, 2020
IFT1403Nov 16, 2021
IFT801Dec 31, 2020
IGHMBP21Apr 24, 2019
IKBKG9Aug 6, 2020
IL2RG14Oct 6, 2020
IL4I12Mar 6, 2020
IL7R10Apr 7, 2021
INF21Dec 31, 2020
INPP5E1Dec 21, 2021
INS5Nov 17, 2015
INS-IGF25Nov 17, 2015
INSR1Dec 2, 2020
IRF2BPL1Nov 16, 2021
IRF81Mar 6, 2020
ITPA2Jan 6, 2022
ITPR11Apr 24, 2019
IVD3Jan 6, 2022
JAG12Feb 9, 2021
JAK319Nov 16, 2021
JUP54Dec 21, 2021
KBTBD131Dec 31, 2020
KCNC11Mar 6, 2020
KCNE17Dec 21, 2021
KCNE27Sep 1, 2021
KCNH274Jan 6, 2022
KCNJ115Aug 5, 2021
KCNJ26Apr 29, 2020
KCNK91Mar 6, 2020
KCNQ165Dec 21, 2021
KCNQ1-AS15Dec 21, 2021
KCNQ1OT16Oct 22, 2021
KCTD73Dec 21, 2021
KDM3B1Aug 5, 2021
KDM5B1Aug 5, 2021
KDM5C1Dec 31, 2020
KDM6A1Dec 2, 2020
KIAA05861Aug 5, 2021
KIF142Aug 5, 2021
KIF1A3Dec 21, 2021
KIF5A1Apr 29, 2020
KIF72Jan 6, 2022
KIRREL21Mar 6, 2020
KLF111Aug 5, 2021
KLLN21Aug 5, 2021
KMT2C4Aug 5, 2021
KMT2E1Mar 6, 2020
KMT5B1Aug 5, 2021
KRAS24Apr 27, 2021
KRT141Mar 6, 2020
L1CAM10Sep 1, 2021
LAMA211Jan 6, 2022
LAMA36Nov 16, 2021
LAMA51Aug 6, 2020
LAMB326Jan 6, 2022
LAMC27Jul 7, 2021
LAMP25Mar 6, 2020
LCA52Sep 1, 2021
LCT2Apr 29, 2020
LDB340Dec 21, 2021
LDLR218Jan 6, 2022
LDLR-AS13Oct 22, 2021
LDLRAP115Jan 6, 2022
LEPR3Aug 18, 2011
LHCGR3Aug 18, 2011
LIG329Nov 16, 2021
LIG42Jan 6, 2022
LIPA2Jan 6, 2022
LMNA33Nov 16, 2021
LOC1001305871Feb 9, 2021
LOC1005073464Jul 1, 2020
LOC1014482025Jul 1, 2020
LOC10192705520Nov 16, 2021
LOC1027235661Aug 5, 2021
LOC10272405821Aug 6, 2020
LOC1053710462Sep 1, 2021
LOC1053783112Nov 16, 2021
LOC1060293121Jan 6, 2022
LOC1060501026May 19, 2021
LOC106099062182Jan 6, 2022
LOC1065017122Jan 6, 2022
LOC1065017135Jan 6, 2022
LOC10662798172Jan 6, 2022
LOC1067366141Aug 18, 2011
LOC10678080010Jan 6, 2022
LOC10679983314Jan 6, 2022
LOC107133510284Jan 6, 2022
LOC1073033385Jan 6, 2022
LOC10730334049Jan 6, 2022
LOC1073033432Jul 1, 2020
LOC1076524453Aug 18, 2011
LOC1079822344Jul 1, 2020
LOC1084918252Jan 25, 2018
LOC1094614841Apr 29, 2020
LOC110006319107Jan 6, 2022
LOC1100112163Mar 6, 2020
LOC11012126914Apr 27, 2021
LOC1101214711Mar 17, 2021
LOC1106314171Dec 2, 2020
LOC1116744631Sep 24, 2019
LOC11167447273Jan 6, 2022
LOC11167447525Apr 27, 2021
LOC11167447722Jan 6, 2022
LOC1125336722Jan 6, 2022
LOC1136338751Jan 25, 2018
LOC1136338773Apr 24, 2019
LOC1136641066Aug 5, 2021
LOC1139399446Dec 21, 2021
LOC1148278276Dec 2, 2020
LOC1148278501Sep 9, 2020
LOC1148278514Sep 9, 2020
LOC1170387951Oct 22, 2021
LOC1171255941Dec 21, 2021
LOC1211753501May 19, 2021
LOC1221522961Oct 22, 2021
LOX7Jan 25, 2018
LOXHD13Dec 21, 2021
LPL19Jan 6, 2022
LRAT2Jan 6, 2022
LRP25Jan 6, 2022
LRP41Jan 6, 2022
LRP4-AS11Jan 6, 2022
LRP54Jan 6, 2022
LRPPRC3Sep 1, 2021
LRRC5640Dec 21, 2021
LRRK21Jan 6, 2022
LTBP21Jan 6, 2022
LTBP41Jan 6, 2022
LZTR1148Jan 6, 2022
MACF11Nov 10, 2020
MAGEL21Aug 6, 2020
MAK1May 19, 2021
MALT11Jan 6, 2022
MAN2B123Jan 6, 2022
MAN2B22Apr 27, 2021
MANBA12Jan 6, 2022
MAP2K140Dec 21, 2021
MAP2K296Jan 6, 2022
MAPRE21Apr 24, 2019
MAX2Jan 25, 2018
MC2R1Dec 2, 2020
MC4R8Sep 24, 2019
MCCC12Jan 6, 2022
MCCC24Jan 6, 2022
MCFD21Feb 9, 2021
MCOLN116Oct 22, 2021
MCPH11Mar 6, 2020
MEA11Apr 24, 2019
MECP281Dec 21, 2021
MED123Nov 16, 2021
MED131Nov 16, 2021
MED13L2Feb 9, 2021
MED232Dec 21, 2021
MEFV122Jan 6, 2022
MEGF85Jan 6, 2022
MEN135Jan 6, 2022
MET19Nov 16, 2021
METTL51Apr 29, 2020
MFF-DT35Jan 6, 2022
MFSD82Jan 6, 2022
MHRT12Dec 21, 2021
MICU21May 19, 2021
MID12Jun 17, 2021
MIR36061Jan 25, 2018
MIR3936HG4Jan 6, 2022
MITF5Sep 24, 2019
MKKS2Jan 6, 2022
MKS13Dec 21, 2021
MLC13Jan 6, 2022
MLH1289Jan 6, 2022
MMAA9Jan 6, 2022
MMAB12Jan 6, 2022
MMACHC34Jan 6, 2022
MMADHC1Feb 26, 2021
MMUT45Jan 6, 2022
MN12Oct 6, 2020
MPL13Jan 6, 2022
MPV171Sep 1, 2021
MPZ1Jan 25, 2018
MRAS15Dec 21, 2021
MRE1138Dec 21, 2021
MSH2385Jan 6, 2022
MSH6535Jan 6, 2022
MSTO12May 19, 2021
MTHFD13Jan 6, 2022
MTHFR1Jul 7, 2021
MTM12May 19, 2021
MTTP22Jan 6, 2022
MUS811Jan 25, 2018
MUTYH150Jan 6, 2022
MVK2Jan 6, 2022
MYBPC396Jan 6, 2022
MYH11112Dec 21, 2021
MYH142Apr 7, 2021
MYH699Jan 6, 2022
MYH794Jan 6, 2022
MYH92Jan 6, 2022
MYL217Dec 21, 2021
MYL312Jan 6, 2022
MYLK103Jan 6, 2022
MYLK-AS112Jan 6, 2022
MYLK216Mar 17, 2021
MYO192Dec 21, 2021
MYO1E1Jan 6, 2022
MYO1F1Mar 6, 2020
MYO7A1Dec 2, 2020
MYOT1Mar 6, 2020
MYOZ24Jan 25, 2018
MYRF1Apr 29, 2020
MYT1L1Mar 6, 2020
NADSYN11Jan 25, 2018
NAGA3Nov 16, 2021
NAGLU23Jan 6, 2022
NBAS3Jan 6, 2022
NBN147Jan 6, 2022
NCF11Jan 6, 2022
NCF22Jan 6, 2022
NCF41Aug 5, 2021
NCF4-AS11Aug 5, 2021
NCOR21Aug 6, 2020
NDE144Oct 22, 2021
NDST11Dec 31, 2020
NDUFAF25Dec 31, 2020
NDUFAF52Jan 6, 2022
NDUFAF81Jun 17, 2021
NDUFS22Mar 6, 2020
NDUFS46Oct 22, 2021
NDUFS61Jan 6, 2022
NDUFS72Aug 5, 2021
NDUFV16Nov 16, 2021
NEB118Jan 6, 2022
NEDD4L1Mar 6, 2020
NEU15Jan 6, 2022
NEUROD11Aug 5, 2021
NEXMIF1Dec 31, 2020
NF1146Jan 6, 2022
NF28Feb 26, 2021
NFIB1Aug 6, 2020
NFIX2Mar 6, 2020
NFKB21Apr 29, 2020
NGLY12Dec 21, 2021
NIPAL42Jan 6, 2022
NIPBL1Feb 9, 2021
NKX2-11Mar 6, 2020
NKX2-510Mar 6, 2020
NLGN32Apr 29, 2020
NME71Nov 20, 2015
NOG1Mar 6, 2020
NONO1Sep 1, 2021
NOS1AP16Jan 6, 2022
NOTCH11Jul 9, 2020
NOTCH32Jan 6, 2022
NPC136Jan 6, 2022
NPC24Dec 31, 2020
NPHP11Dec 21, 2021
NPHP33Jan 6, 2022
NPHP3-ACAD113Jan 6, 2022
NPHP3-AS11Jan 6, 2022
NPHP42Jun 17, 2021
NPHS152Jan 6, 2022
NPHS223Jan 6, 2022
NPPA6Dec 2, 2020
NPPA-AS16Dec 2, 2020
NR0B13Apr 27, 2021
NR2F11Mar 6, 2020
NRAS14Dec 21, 2021
NRXN11Mar 6, 2020
NSD11Apr 24, 2019
NSDHL1Mar 6, 2020
NSUN22Apr 29, 2020
NSUN617Dec 21, 2021
NTRK17Jan 6, 2022
NUP2141Mar 6, 2020
NUP622Mar 6, 2020
OAT1Oct 22, 2021
OBSL15Jan 6, 2022
OCRL1Dec 21, 2021
OSGIN21Sep 1, 2021
OTC23Oct 22, 2021
OTOF8Jan 6, 2022
OTOG1Feb 26, 2021
OTUD51Sep 1, 2021
OTUD6B2Mar 6, 2020
PACS11Mar 6, 2020
PAH150Jan 6, 2022
PALB2270Jan 6, 2022
PANK24Jan 6, 2022
PARS21Nov 16, 2021
PAX31Feb 9, 2021
PAX41Aug 5, 2021
PCCA23Jan 6, 2022
PCCB28Jan 6, 2022
PCDH1525Jan 6, 2022
PCSK972Dec 21, 2021
PDHA16Jan 6, 2022
PDHX2Jan 6, 2022
PDX114Sep 24, 2019
PEX138Jan 6, 2022
PEX107Nov 16, 2021
PEX1212Jan 6, 2022
PEX191Nov 16, 2021
PEX25Apr 24, 2019
PEX266Jan 6, 2022
PEX51May 19, 2021
PEX625Aug 5, 2021
PEX712Dec 21, 2021
PFKM1Jan 6, 2022
PGBD31Jan 6, 2022
PGM32Oct 22, 2021
PHEX7Aug 18, 2011
PHF31Nov 16, 2021
PHF81May 13, 2020
PHGDH6Jan 6, 2022
PHKA23Nov 16, 2021
PHKA2-AS12Nov 16, 2021
PHKB3Jan 6, 2022
PHKG21Aug 5, 2021
PHOX2B7Mar 6, 2020
PHOX2B-AS11Jan 25, 2018
PIEZO11Jan 6, 2022
PIEZO21Oct 6, 2020
PIGW2Dec 31, 2020
PIK3CA1Feb 9, 2021
PIK3R11Mar 6, 2020
PKD11Jun 17, 2021
PKD2L2-DT1Mar 6, 2020
PKHD1167Jan 6, 2022
PKP278Jan 6, 2022
PLA2G68Jan 6, 2022
PLCH21Feb 9, 2021
PLD11Dec 31, 2020
PLEKHG21Apr 24, 2019
PLEKHG51Aug 5, 2021
PLN1Mar 6, 2020
PLOD21Dec 21, 2021
PLUT7Sep 24, 2019
PMM244Jan 6, 2022
PMP221Mar 6, 2020
PMS2347Jan 6, 2022
PNKD1Jan 6, 2022
PNKP1Apr 29, 2020
PNP1Jan 6, 2022
PNPLA12Jan 6, 2022
PNPLA82Oct 6, 2020
PNPO1Jan 6, 2022
POGZ1Dec 2, 2020
POLD167Dec 21, 2021
POLE101Dec 21, 2021
POLG4Jan 6, 2022
POLH2Jan 6, 2022
POLR1C3Jan 6, 2022
POLR3B1Mar 6, 2020
POMGNT16Jan 6, 2022
POMT13Jan 6, 2022
POMT26Jan 6, 2022
PON211Nov 16, 2021
POR2Jan 6, 2022
POU1F11Aug 18, 2011
PPM1D1Mar 6, 2020
PPP2R5D1Apr 24, 2019
PPT116Dec 21, 2021
PRF113Jan 6, 2022
PRKAG228Dec 21, 2021
PRKAR1A43Oct 22, 2021
PRKCG1Apr 29, 2020
PRKDC2Jan 6, 2022
PRMT71Jul 1, 2020
PROKR21Dec 21, 2021
PROP14Aug 18, 2011
PRSS143Dec 21, 2021
PSEN11Jul 1, 2020
PTCH127Dec 21, 2021
PTCHD11Apr 27, 2021
PTCHD1-AS2Aug 18, 2011
PTEN88Jan 6, 2022
PTHLH1Aug 5, 2021
PTPN11113Jan 6, 2022
PTPRC1Jan 6, 2022
PTS2Dec 21, 2021
PUF601Nov 16, 2021
PUM11Mar 6, 2020
PURA1Mar 6, 2020
PUS32Jan 6, 2022
PYCR13Dec 21, 2021
PYGM3Nov 16, 2021
RAB231Jan 6, 2022
RAB33A2Jul 1, 2020
RAD211Nov 10, 2020
RAD5069Jan 6, 2022
RAD51C93Dec 21, 2021
RAD51D84Dec 21, 2021
RAD51L3-RFFL84Dec 21, 2021
RAF173Jan 6, 2022
RAG117Jan 6, 2022
RAG213Nov 16, 2021
RAPSN3Jan 6, 2022
RARS27Jan 6, 2022
RASA263Jan 6, 2022
RB120Jan 6, 2022
RBM2033Nov 16, 2021
RD31Jan 6, 2022
RDH124Jan 6, 2022
RECQL43Sep 1, 2021
RELN2May 19, 2021
RET34Jan 6, 2022
RFX52Jan 6, 2022
RFXANK1Jan 6, 2022
RIF133Sep 1, 2021
RIMS11Nov 10, 2020
RIT122Jan 6, 2022
RLBP11Oct 22, 2021
RMRP49Dec 21, 2021
RNASEH2A2Dec 21, 2021
RNASEH2B1Mar 6, 2020
RNASEH2C1Apr 29, 2020
RP22Dec 21, 2021
RPE652Jan 6, 2022
RPGRIP14Jan 6, 2022
RPGRIP1L4Jan 6, 2022
RPH3A1Mar 6, 2020
RPIA2Mar 6, 2020
RPL36A-HNRNPH2176Dec 21, 2021
RPS6KA31Aug 6, 2020
RRAS37Jan 6, 2022
RTEL115Sep 24, 2019
RTEL1-TNFRSF6B15Sep 24, 2019
RTN21Apr 24, 2019
RUNX21Mar 6, 2020
RYR110Aug 5, 2021
RYR2227Jan 6, 2022
SACS21Jan 6, 2022
SAMHD12Dec 21, 2021
SBF12Apr 24, 2019
SCAMP42Dec 31, 2020
SCN10A2Dec 21, 2021
SCN1A37Oct 22, 2021
SCN1A-AS11Dec 31, 2020
SCN1B17Aug 5, 2021
SCN2A2Dec 31, 2020
SCN4A1Apr 29, 2020
SCN4B9Jan 6, 2022
SCN5A144Dec 21, 2021
SCN8A1Feb 9, 2021
SCN9A1Dec 31, 2020
SDCCAG82Nov 16, 2021
SDHAF21Nov 10, 2020
SDHB22Jan 6, 2022
SDHC2Jan 25, 2018
SDHD9Mar 17, 2021
SEC631Aug 5, 2021
SELENON1Oct 22, 2021
SEPSECS2Sep 1, 2021
SERPINC12Oct 22, 2021
SERPINF14Jan 6, 2022
SETBP11Nov 16, 2021
SETD1B1Dec 21, 2021
SETD22Mar 6, 2020
SETD51Aug 6, 2020
SF3B11Aug 5, 2021
SFTA31Mar 6, 2020
SGCA2Mar 6, 2020
SGCB2Nov 16, 2021
SGCD12Dec 21, 2021
SGCG3Jan 6, 2022
SGSH30Jan 6, 2022
SH2D1A3Apr 24, 2019
SHOC233Dec 21, 2021
SHOX6Mar 6, 2020
SIM11Dec 2, 2020
SKIV2L4Jan 6, 2022
SLC12A11Jan 6, 2022
SLC12A610Aug 5, 2021
SLC16A21Aug 5, 2021
SLC17A514Oct 22, 2021
SLC1A21Feb 9, 2021
SLC22A543Jan 6, 2022
SLC25A12Mar 6, 2020
SLC25A153Sep 1, 2021
SLC25A2011Dec 21, 2021
SLC26A115Dec 21, 2021
SLC26A111Jul 1, 2020
SLC26A220Jan 6, 2022
SLC26A415Jan 6, 2022
SLC27A41Jan 6, 2022
SLC2A1025Dec 21, 2021
SLC34A38Jan 25, 2018
SLC35A31Jan 25, 2018
SLC35C11May 19, 2021
SLC37A423Jan 6, 2022
SLC39A51Oct 6, 2020
SLC46A11Jan 6, 2022
SLC4A113Jan 6, 2022
SLC6A191Apr 29, 2020
SLC6A81Apr 29, 2020
SLC7A73Nov 16, 2021
SLC9A11Jan 6, 2022
SLC9A71Oct 22, 2021
SLITRK11Mar 6, 2020
SLX41Feb 9, 2021
SMAD312Jul 7, 2021
SMAD456Nov 16, 2021
SMARCA11Mar 6, 2020
SMARCA22Dec 31, 2020
SMARCA41Apr 29, 2020
SMARCB17Jan 6, 2022
SMC31Apr 24, 2019
SMN141Jan 6, 2022
SMN21Apr 29, 2020
SMPD155Jan 6, 2022
SMPX1Feb 9, 2021
SNAPC56Dec 31, 2020
SNHG141Apr 29, 2020
SNHG311Jan 6, 2022
SNTA124Jan 6, 2022
SORD1Dec 21, 2021
SOS1134Dec 21, 2021
SOS295Jan 6, 2022
SOX111Mar 6, 2020
SP1103Jan 6, 2022
SP1402Jan 6, 2022
SPAST2Jan 6, 2022
SPATA2216Apr 27, 2021
SPATA75Jan 6, 2022
SPECC1L1Dec 2, 2020
SPECC1L-ADORA2A1Dec 2, 2020
SPG118Jan 6, 2022
SPG71Jan 6, 2022
SPINK129Nov 16, 2021
SPR1Mar 6, 2020
SPRED137Jan 6, 2022
SPTAN11Apr 24, 2019
SPTBN11Nov 16, 2021
SPTBN21Mar 6, 2020
SRCAP2Oct 6, 2020
SRFBP11Jan 25, 2018
SRGAP11Feb 26, 2021
SSUH22Mar 6, 2020
STAG11Apr 24, 2019
STAR2Oct 22, 2021
STAT335Jan 6, 2022
STK11120Jan 6, 2022
STON1-GTF2A1L3Aug 18, 2011
STRC2Jan 6, 2022
STXBP22Jan 6, 2022
STYXL21Mar 6, 2020
SUFU8Apr 24, 2019
SUMF110Dec 2, 2020
SUOX3Jan 6, 2022
SURF131Jan 6, 2022
SYCE23Mar 6, 2020
SYNE13Mar 6, 2020
SYNE41Jan 6, 2022
SYNGAP11Mar 6, 2020
TAB21Apr 27, 2021
TAF11Mar 6, 2020
TAF62Dec 21, 2021
TAFAZZIN5Mar 17, 2021
TAOK11Mar 6, 2020
TARID3Sep 1, 2021
TBCD1Mar 6, 2020
TBCEL-TECTA1Jan 6, 2022
TBCK2Mar 6, 2020
TBR11Jul 7, 2021
TBX221Jun 17, 2021
TBX31Apr 29, 2020
TBX58Mar 6, 2020
TCAP10Dec 21, 2021
TCF41May 13, 2020
TCIRG15Sep 1, 2021
TCTN22Dec 21, 2021
TECPR23Jan 6, 2022
TECTA1Jan 6, 2022
TGFB213Sep 1, 2021
TGFB39Apr 7, 2021
TGFBR125Jan 6, 2022
TGFBR242Dec 21, 2021
TGM15Jan 6, 2022
TH6Jan 6, 2022
TH2-LCR6Jun 17, 2021
TH2LCRR10Sep 1, 2021
THBD1Aug 5, 2021
THOC21Dec 21, 2021
THRB1Jan 6, 2022
TK21Sep 1, 2021
TLL11Dec 31, 2020
TMCO11Dec 2, 2020
TMEM1273Jun 17, 2021
TMEM2167Nov 16, 2021
TMEM2313Nov 16, 2021
TMEM4335Nov 16, 2021
TMEM50B1Aug 18, 2011
TMEM6710Jan 6, 2022
TMLHE1Mar 6, 2020
TMPO20Nov 16, 2021
TMPO-AS14Nov 16, 2021
TMPPE2Apr 24, 2019
TMPRSS32Aug 6, 2020
TNC2Dec 2, 2020
TNFRSF13B15Jul 7, 2021
TNFSF111Jan 6, 2022
TNNC17Sep 1, 2021
TNNI318Jan 6, 2022
TNNT11Aug 18, 2011
TNNT225May 19, 2021
TNXB1Nov 17, 2015
TOE14Oct 22, 2021
TOP2B1Mar 6, 2020
TOPORS1Oct 6, 2020
TP5396Dec 21, 2021
TPM18Dec 21, 2021
TPO2Mar 6, 2020
TPP117Jan 6, 2022
TRAPPC91Apr 29, 2020
TRB43Dec 21, 2021
TRDN3Aug 5, 2021
TREX11Jan 6, 2022
TRIM59-IFT801Dec 31, 2020
TRIO1Mar 6, 2020
TRMU1Jan 6, 2022
TRNT11Mar 6, 2020
TSC125Jan 6, 2022
TSC246Jan 6, 2022
TSEN21Jan 6, 2022
TSEN543Dec 21, 2021
TSPAN16Jan 6, 2022
TSPAN3115Oct 22, 2021
TTC372Dec 21, 2021
TTC7A4Jan 6, 2022
TTC83Jan 6, 2022
TTN925Jan 6, 2022
TTN-AS1504Jan 6, 2022
TTPA10Jan 6, 2022
TTR41Dec 21, 2021
TUBB31Jun 17, 2021
TUBB4A1Apr 24, 2019
TUBB61Mar 6, 2020
TULP11Aug 6, 2020
UBE3A1Apr 29, 2020
UBR11Mar 6, 2020
UMPS1May 19, 2021
UNC13D6Jan 6, 2022
UNC802Mar 6, 2020
UNG4Mar 6, 2020
UPB11Dec 21, 2021
USH1C1Oct 22, 2021
USH1G2Jan 6, 2022
USH2A38Jan 6, 2022
USH2A-AS11Dec 2, 2020
USP9X2Apr 27, 2021
VCL26Dec 21, 2021
VCP1Jan 6, 2022
VHL85Jan 6, 2022
VPS13B30Jan 6, 2022
VPS13C2Jul 1, 2020
VPS532Oct 22, 2021
VRK21Mar 17, 2021
VWF3Jan 6, 2022
WAC1Nov 16, 2021
WAS23May 19, 2021
WASHC42Oct 6, 2020
WASHC51Jan 6, 2022
WDFY31Mar 6, 2020
WDPCP1Apr 29, 2020
WDR111Mar 6, 2020
WDR191Dec 21, 2021
WDR262Apr 29, 2020
WDR451Mar 6, 2020
WDR622Apr 29, 2020
WFS11Jan 6, 2022
WHRN2Aug 5, 2021
WRN5Jan 6, 2022
WT18Aug 5, 2021
WWOX1Mar 6, 2020
XPA10Sep 1, 2021
XPC26Jan 6, 2022
ZAP708Aug 5, 2021
ZBTB243Jan 6, 2022
ZDHHC2410May 19, 2021
ZDHHC91Mar 6, 2020
ZEB21Jan 6, 2022
ZFPM11Oct 6, 2020
ZFYVE262Oct 22, 2021
ZNF2762Jan 6, 2022
ZNF4072Feb 26, 2021
ZNF4698Jan 6, 2022
ZNF7111May 13, 2020
ZNHIT31Dec 2, 2020

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 21Aug 18, 2011
Abetalipoproteinaemia7Nov 16, 2021
Achondrogenesis type II2Apr 24, 2019
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2Jan 6, 2022
Adrenoleukodystrophy16Aug 5, 2021
Agenesis of the corpus callosum with peripheral neuropathy3Mar 6, 2020
Aicardi Goutieres syndrome3Dec 21, 2021
Aicardi Goutieres syndrome 11Jan 6, 2022
Aicardi-Goutieres syndrome 61Dec 21, 2021
Al-Raqad syndrome1Jan 6, 2022
Alexander Disease1Oct 22, 2021
Alkaline ceramidase 3 deficiency1Mar 6, 2020
Allan-Herndon-Dudley syndrome1Aug 5, 2021
Alpha thalassemia-X-linked intellectual disability syndrome3Sep 1, 2021
Alpha-N-acetylgalactosaminidase deficiency type 21Jul 1, 2020
Alport syndrome 1, X-linked recessive5Oct 22, 2021
Alport syndrome, autosomal recessive20Jan 6, 2022
Alstrom syndrome7Jan 6, 2022
Alzheimer disease, type 31Jul 1, 2020
Amyloid Cardiomyopathy, Transthyretin-related1Aug 18, 2011
Amyloidogenic transthyretin amyloidosis21May 19, 2021
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Apr 27, 2021
Antithrombin III deficiency2Oct 22, 2021
Apparent mineralocorticoid excess1Aug 18, 2011
Arginase deficiency1Dec 21, 2021
Arginine:glycine amidinotransferase deficiency1Nov 16, 2021
Argininosuccinate lyase deficiency15Jan 6, 2022
Arrhythmia4Sep 1, 2021
Arrhythmogenic right ventricular cardiomyopathy7Sep 24, 2019
Arterial tortuosity syndrome2Sep 1, 2021
Arthrogryposis, mental retardation, and seizures1Jan 25, 2018
Aspartylglucosaminuria4Dec 21, 2021
Asphyxiating thoracic dystrophy 21Dec 31, 2020
Ataxia-telangiectasia syndrome126Jan 6, 2022
Ataxia-telangiectasia-like disorder1Mar 6, 2020
Atrial septal defect1Nov 20, 2015
Atrial septal defect 7 with or without atrioventricular conduction defects3Apr 11, 2018
Autism 51Jul 7, 2021
Autosomal dominant epilepsy8Dec 31, 2020
Autosomal dominant hypocalcemia2Jan 6, 2022
Autosomal dominant hypophosphatemic rickets2Aug 18, 2011
Autosomal dominant isolated somatotropin deficiency1Aug 18, 2011
Autosomal recessive DOPA responsive dystonia2Sep 1, 2021
Autosomal recessive cutis laxa type 1B1Sep 1, 2021
Autosomal recessive distal renal tubular acidosis1Nov 16, 2021
Autosomal recessive polycystic kidney disease71Jan 6, 2022
BH4-deficient hyperphenylalaninemia A5Dec 21, 2021
Baller-Gerold syndrome3Sep 1, 2021
Bardet-Biedl syndrome48Jan 6, 2022
Bardet-Biedl syndrome 104Mar 6, 2020
Bardet-Biedl syndrome 23Apr 24, 2019
Bernard Soulier syndrome1Jul 1, 2020
Beta thalassemia intermedia8Dec 21, 2021
Beta thalassemia major6Apr 27, 2021
Beta-D-mannosidosis6Jan 6, 2022
Beta-thalassemia, dominant inclusion body type2Aug 5, 2021
Bifunctional peroxisomal enzyme deficiency8Oct 6, 2020
Biotinidase deficiency5Jul 7, 2021
Bloom syndrome27Jan 6, 2022
Bohring-Opitz syndrome2Apr 24, 2019
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 6, 2020
Brachydactyly type E21Aug 5, 2021
Brittle cornea syndrome 12Jan 6, 2022
Brugada syndrome (shorter-than-normal QT interval)8Aug 5, 2021
CC2D2A-Related Disorders1Dec 2, 2020
CEP290-Related Disorders4Oct 22, 2021
CHARGE association2Apr 24, 2019
CHD8-Related Disorders1Sep 1, 2021
Canavan Disease, Familial Form15Apr 27, 2021
Cardiac arrhythmia53Dec 31, 2020
Cardiac valvular defect, developmental1Dec 31, 2020
Cardio-facio-cutaneous syndrome12Dec 21, 2021
Cardiomyopathy114Jan 6, 2022
Cardiovascular phenotype32Apr 24, 2019
Carney complex1Dec 2, 2020
Carnitine acylcarnitine translocase deficiency9Dec 21, 2021
Carnitine palmitoyltransferase II deficiency13Aug 5, 2021
Carpenter syndrome1Sep 1, 2021
Catecholaminergic polymorphic ventricular tachycardia2Apr 27, 2021
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1Jan 6, 2022
Cerebrooculofacioskeletal syndrome 31Sep 1, 2021
Ceroid lipofuscinosis neuronal 22Apr 29, 2020
Charcot-Marie-Tooth disease type 41Apr 24, 2019
Charcot-Marie-Tooth disease, axonal, type 2S1Apr 24, 2019
Charlevoix-Saguenay spastic ataxia17Jan 6, 2022
Cholestanol storage disease3Nov 16, 2021
Cholesterol monooxygenase (side-chain cleaving) deficiency1Aug 18, 2011
Chronic granulomatous disease3Dec 21, 2021
Chronic granulomatous disease, X-linked20Sep 1, 2021
Ciliary dyskinesia, primary, 21Jan 6, 2022
Citrullinemia1Jan 6, 2022
Citrullinemia type I16May 13, 2020
Cleidocranial dysostosis1Mar 6, 2020
Cobalamin C disease27Jan 6, 2022
Cockayne syndrome4Dec 21, 2021
Coenzyme Q10 deficiency, primary, 51May 22, 2020
Coffin-Lowry syndrome1Aug 6, 2020
Coffin-Siris syndrome2Jan 6, 2022
Cohen syndrome23Aug 5, 2021
Collagen VI-related myopathy1Jan 6, 2022
Combined cellular and humoral immune defects with granulomas1Nov 20, 2015
Combined deficiency of sialidase AND beta galactosidase5Jan 6, 2022
Combined malonic and methylmalonic aciduria3Nov 16, 2021
Common variable agammaglobulinemia3Jun 17, 2021
Common variable immunodeficiency 23Aug 18, 2011
Congenital adrenal hyperplasia30Jan 6, 2022
Congenital adrenal hypoplasia, X-linked3Apr 27, 2021
Congenital amegakaryocytic thrombocytopenia11Nov 16, 2021
Congenital bilateral aplasia of vas deferens from CFTR mutation10Jul 7, 2021
Congenital disorder of glycosylation type 1C1Oct 22, 2021
Congenital disorder of glycosylation type 1u1Nov 10, 2020
Congenital disorder of glycosylation, type Ia37Jan 6, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 13, 2020
Congenital heart disease2Nov 20, 2015
Congenital heart disease (variable)3Mar 6, 2020
Congenital hyperammonemia, type I15Nov 16, 2021
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2Oct 6, 2020
Congenital long QT syndrome2Mar 6, 2020
Congenital muscular dystrophy, LMNA-related1Nov 20, 2015
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A48Jun 17, 2021
Congenital myasthenic syndrome2Jan 6, 2022
Congenital myopathy with fiber type disproportion1Aug 5, 2021
Congenital myotonia, autosomal recessive form1Mar 6, 2020
Corneal dystrophy-perceptive deafness syndrome1Nov 16, 2021
Cornelia de Lange syndrome 52Mar 6, 2020
Cortical dysplasia, complex, with other brain malformations 11Jun 17, 2021
Costello syndrome5Oct 22, 2021
Cowden syndrome9Apr 7, 2021
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1Dec 2, 2020
Craniofrontonasal syndrome1May 13, 2020
Cutaneous malignant melanoma 81Sep 24, 2019
Cutis laxa2Sep 1, 2021
Cystic fibrosis235Jan 6, 2022
Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation1May 19, 2021
Cystinosis15Jan 6, 2022
D-2-hydroxyglutaric aciduria 11Dec 2, 2020
DPAGT1-CDG1Dec 21, 2021
Deafness, autosomal recessive 1A50Jan 6, 2022
Deafness, autosomal recessive 251Dec 2, 2020
Deafness, autosomal recessive 82Aug 6, 2020
Deafness, autosomal recessive 91Oct 6, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase56Dec 21, 2021
Deficiency of acetyl-CoA acetyltransferase11Dec 21, 2021
Deficiency of alpha-mannosidase15Dec 31, 2020
Deficiency of aromatic-L-amino-acid decarboxylase1Oct 22, 2021
Deficiency of beta-ureidopropionase1Dec 21, 2021
Deficiency of butyrylcholine esterase4Sep 1, 2021
Deficiency of galactokinase1Apr 7, 2021
Deficiency of guanidinoacetate methyltransferase8Sep 1, 2021
Deficiency of hydroxymethylglutaryl-CoA lyase8Oct 22, 2021
Deficiency of iodide peroxidase2Mar 6, 2020
Deficiency of ribose-5-phosphate isomerase2Mar 6, 2020
Deficiency of steroid 17-alpha-monooxygenase1Nov 16, 2021
Desanto-shinawi syndrome1Nov 16, 2021
Dihydropyrimidine dehydrogenase deficiency14Aug 5, 2021
Dilated cardiomyopathy with woolly hair and keratoderma1Nov 16, 2021
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Mar 6, 2020
Dysfibrinogenemia, congenital1Dec 21, 2021
Dyskeratosis congenita8Sep 24, 2019
Dystrophinopathies74Jan 6, 2022
EEF1A2-related disorders1Feb 26, 2021
Early-onset coronary artery disease3Jul 9, 2020
Ectodermal dysplasia and immunodeficiency 17Jan 25, 2018
Ectopia lentis, isolated, autosomal dominant1Aug 18, 2011
Ehlers-Danlos syndrome dermatosparaxis type2Apr 27, 2021
Ehlers-Danlos syndrome, musculocontractural type2Oct 22, 2021
Ehlers-Danlos syndrome, type 48Jan 6, 2022
Eichsfeld type congenital muscular dystrophy1Oct 22, 2021
Emery-Dreifuss muscular dystrophy3Aug 5, 2021
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Mar 6, 2020
Epidermolysis bullosa dystrophica1Mar 6, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation1May 19, 2021
Erythrocytosis, familial, 21Dec 2, 2020
Ethylmalonic encephalopathy6Dec 31, 2020
Fabry disease137Nov 16, 2021
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs1Dec 21, 2021
Factor XIII, A subunit, deficiency of1Jan 6, 2022
Familial Mediterranean fever25May 13, 2020
Familial X-linked hypophosphatemic vitamin D refractory rickets7Aug 18, 2011
Familial aortopathy26Jul 9, 2020
Familial cancer of breast38May 13, 2020
Familial dysautonomia6Jan 6, 2022
Familial hemophagocytic lymphohistiocytosis10Jan 6, 2022
Familial hypercholesterolemia112Dec 21, 2021
Familial hypercholesterolemia 119Nov 20, 2015
Familial hyperinsulinism31Jan 6, 2022
Familial hypocalciuric hypercalcemia31Jan 6, 2022
Familial isolated arrhythmogenic right ventricular dysplasia17Nov 16, 2021
Familial isolated deficiency of vitamin E6Mar 6, 2020
Familial isolated hypoparathyroidism1Aug 18, 2011
Familial multiple polyposis syndrome46Dec 21, 2021
Familial prostate carcinoma1Sep 1, 2021
Familial thoracic aortic aneurysm and aortic dissection1Mar 6, 2020
Fanconi anemia9Jan 6, 2022
Fanconi anemia, complementation group C24Sep 1, 2021
Fanconi anemia, complementation group J3Jan 6, 2022
Finnish congenital nephrotic syndrome34Nov 16, 2021
Fucosidosis6Jan 6, 2022
Fumarase deficiency1Apr 24, 2019
GEMIN5-Related Disorders2Aug 5, 2021
GM1 gangliosidosis12Oct 22, 2021
GNE myopathy2Dec 21, 2021
GRACILE syndrome3Nov 10, 2020
Galactosylceramide beta-galactosidase deficiency22Jan 6, 2022
Gaucher disease53Dec 21, 2021
Generalized epilepsy with febrile seizures plus3Nov 20, 2015
Generalized juvenile polyposis/juvenile polyposis coli8Dec 2, 2020
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1Apr 29, 2020
Glucose-6-phosphate transport defect20Jan 6, 2022
Glutaric aciduria, type 125Nov 16, 2021
Gluthathione synthetase deficiency5Apr 29, 2020
Glycogen phosphorylase kinase deficiency2Dec 21, 2021
Glycogen storage disease IIIa7May 19, 2021
Glycogen storage disease IIIb1Jan 25, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA24Jan 6, 2022
Glycogen storage disease type III25Jan 6, 2022
Glycogen storage disease type IXa11Apr 24, 2019
Glycogen storage disease, type II100Jan 6, 2022
Glycogen storage disease, type IV5Dec 21, 2021
Glycogen storage disease, type V2Mar 17, 2021
Gonadotropin-independent familial sexual precocity3Aug 18, 2011
Gorlin syndrome1Dec 2, 2020
Hemochromatosis type 14Sep 1, 2021
Hemoglobin D disease1Mar 6, 2020
Hemoglobinopathy36Jan 6, 2022
Hereditary Paraganglioma-Pheochromocytoma Syndromes15Jan 6, 2022
Hereditary breast and ovarian cancer syndrome1172Jan 6, 2022
Hereditary cancer-predisposing syndrome10Jan 25, 2018
Hereditary diffuse gastric cancer11Nov 16, 2021
Hereditary fructosuria14Feb 26, 2021
Hereditary leiomyomatosis and renal cell cancer1Jul 9, 2020
Hereditary melanoma8Dec 21, 2021
Hereditary nonpolyposis colon cancer191Jan 6, 2022
Hereditary pancreatitis17Nov 16, 2021
Hereditary sensory and autonomic neuropathy type IIC1Oct 6, 2020
Hereditary spastic paraplegia 121Apr 24, 2019
Hereditary spastic paraplegia 3A1Mar 6, 2020
Hereditary spastic paraplegia 71Jan 6, 2022
Hermansky-Pudlak syndrome3Aug 5, 2021
Hirschsprung disease 11Aug 18, 2011
Histiocytic medullary reticulosis5May 13, 2020
Holocarboxylase synthetase deficiency7Jul 7, 2021
Holt-Oram syndrome1Mar 6, 2020
Homocystinuria39Jan 6, 2022
Hydrolethalus syndrome1Jan 6, 2022
Hyper-IgE recurrent infection syndrome 1, autosomal dominant10Aug 18, 2011
Hyper-IgE syndrome3Apr 24, 2019
Hyper-IgM syndrome type 15Nov 10, 2020
Hyper-IgM syndrome type 22Aug 18, 2011
Hyper-IgM syndrome type 53Aug 18, 2011
Hyperimmunoglobulin M syndrome2Mar 6, 2020
Hyperinsulinemic hypoglycemia, familial, 110Apr 29, 2020
Hyperlipoproteinemia, type I2Jan 6, 2022
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1Sep 1, 2021
Hyperphenylalaninemia, non-pku9Jan 25, 2018
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1Oct 6, 2020
Hypogonadotropic hypogonadism 14 with or without anosmia1Mar 6, 2020
Hypophosphatasia29Jan 6, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Mar 6, 2020
IFN-gamma receptor 1 deficiency1Jan 25, 2018
Ichthyosis vulgaris1Feb 9, 2021
Idiopathic growth hormone deficiency4Aug 18, 2011
Incontinentia pigmenti syndrome1Aug 6, 2020
Infantile epileptic dyskinetic encephalopathy1Nov 16, 2021
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Jan 6, 2022
Intellectual developmental disorder 611Nov 16, 2021
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Mar 6, 2020
Intellectual developmental disorder with persistence of fetal hemoglobin1Oct 22, 2021
Intellectual developmental disorder with seizures and language delay1Dec 21, 2021
Intellectual developmental disorder, autosomal recessive 721Apr 29, 2020
Intellectual disability, autosomal dominant 471Apr 24, 2019
Intellectual disability, autosomal dominant 91Dec 21, 2021
Intellectual disability, autosomal recessive 651Aug 5, 2021
Interferon gamma receptor deficiency6Aug 18, 2011
Isovaleryl-CoA dehydrogenase deficiency1Nov 16, 2021
Joubert syndrome 23Nov 16, 2021
Joubert syndrome 61Sep 9, 2020
Joubert syndrome and related disorders10Jan 6, 2022
Junctional epidermolysis bullosa9Nov 16, 2021
Junctional epidermolysis bullosa gravis of Herlitz14May 13, 2020
Junctional epidermolysis bullosa, non-Herlitz type4Mar 6, 2020
Juvenile polyposis syndrome3Dec 21, 2021
Kleefstra syndrome 11Dec 31, 2020
Kleefstra syndrome 21Feb 9, 2021
L1 syndrome7Sep 1, 2021
LAMA2-related muscular dystrophy3Dec 21, 2021
Lamellar ichthyosis7Jan 6, 2022
Laryngo-onycho-cutaneous syndrome1Mar 6, 2020
Leber congenital amaurosis3Oct 22, 2021
Legius syndrome1Apr 29, 2020
Leigh syndrome32Jan 6, 2022
Lethal multiple pterygium syndrome1Dec 31, 2020
Leukocyte adhesion deficiency type II1May 19, 2021
Leukodystrophy, hypomyelinating, 61Apr 24, 2019
Leukoencephalopathy with vanishing white matter2Sep 9, 2020
Li-Fraumeni syndrome16Aug 5, 2021
Lichtenstein-knorr syndrome1Jan 6, 2022
Limb-girdle muscular dystrophy, autosomal recessive18Jan 6, 2022
Limb-girdle muscular dystrophy, type 2J1Dec 21, 2021
Loeys-Dietz syndrome16Jun 17, 2021
Long QT syndrome34Jan 6, 2022
Long QT syndrome 16Sep 24, 2019
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency13Nov 10, 2020
Lynch syndrome230May 13, 2020
MAN2B2-Related Disorders1Apr 27, 2021
MEN2 phenotype: Unclassified3Jan 6, 2022
MICU2-Related Disorders1May 19, 2021
MYH-associated polyposis32Nov 16, 2021
MYO7A-Related Disorders1Dec 2, 2020
Macrocephaly, acquired, with impaired intellectual development1Aug 6, 2020
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1Jan 6, 2022
Malignant hyperthermia susceptibility2Jul 1, 2020
Malignant tumor of breast37Jan 6, 2022
Maple syrup urine disease18Jan 6, 2022
Maple syrup urine disease type 1A7Apr 7, 2021
Maple syrup urine disease type 1B12Aug 6, 2020
Maple syrup urine disease, type 34Jun 17, 2021
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections114Jan 6, 2022
Marfan syndrome89Nov 27, 2018
Maturity onset diabetes mellitus in young5Jun 17, 2021
Maturity-onset diabetes of the young type 410Nov 17, 2015
Maturity-onset diabetes of the young type 81Aug 18, 2011
Maturity-onset diabetes of the young, type 123Nov 17, 2015
Maturity-onset diabetes of the young, type 2109Jun 17, 2021
Maturity-onset diabetes of the young, type 340Nov 17, 2015
Meckel syndrome, type 42Jan 6, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency20Jul 7, 2021
Megalencephalic leukoencephalopathy with subcortical cysts1Jan 6, 2022
Menkes kinky-hair syndrome1May 13, 2020
Mental retardation and distinctive facial features with or without cardiac defects1Mar 6, 2020
Mental retardation with language impairment and with or without autistic features3Sep 9, 2020
Mental retardation, X-linked 1021May 13, 2020
Mental retardation, X-linked 981Dec 31, 2020
Mental retardation, X-linked, syndromic 341Sep 1, 2021
Mental retardation, autosomal dominant 211Jul 1, 2020
Mental retardation, autosomal dominant 311Mar 6, 2020
Mental retardation, autosomal dominant 351Apr 24, 2019
Mental retardation, autosomal dominant 61Mar 6, 2020
Mental retardation, autosomal dominant 71Apr 27, 2021
Mental retardation, autosomal recessive 181Feb 9, 2021
Mental retardation, autosomal recessive 371Apr 7, 2021
Mental retardation, autosomal recessive 461Dec 31, 2020
Mental retardation, with or without seizures, ARX-related, X-linked1Mar 6, 2020
Metachromatic leukodystrophy38Jan 6, 2022
Metaphyseal chondrodysplasia, McKusick type45Dec 21, 2021
Methylcrotonyl-CoA carboxylase deficiency1Dec 21, 2021
Methylmalonic acidemia59Jan 6, 2022
Microcephaly, normal intelligence and immunodeficiency15Dec 21, 2021
Microspherophakia1Jan 6, 2022
Mitochondrial DNA depletion syndrome1Sep 1, 2021
Mitochondrial complex 1 deficiency, nuclear type 191Oct 6, 2020
Mitochondrial complex 1 deficiency, nuclear type 341Jun 17, 2021
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61Oct 6, 2020
Mitochondrial complex I deficiency1Sep 1, 2021
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1May 19, 2021
Mitochondrial trifunctional protein deficiency7Nov 16, 2021
Monogenic diabetes2Jan 6, 2022
Morquio syndrome16Oct 22, 2021
Mowat-Wilson syndrome1Jan 6, 2022
Mucolipidosis17Jan 6, 2022
Mucolipidosis type II6Mar 6, 2020
Mucolipidosis type IV12Aug 6, 2020
Mucopolysaccharidosis type 134Jan 6, 2022
Mucopolysaccharidosis type 612May 19, 2021
Mucopolysaccharidosis type 74Aug 6, 2020
Mucopolysaccharidosis, MPS-II6May 19, 2021
Mucopolysaccharidosis, MPS-III-A17Jan 6, 2022
Mucopolysaccharidosis, MPS-III-B16Jan 6, 2022
Mucopolysaccharidosis, MPS-IV-B9Nov 16, 2021
Multiple acyl-CoA dehydrogenase deficiency2Aug 5, 2021
Multiple congenital exostosis1Apr 24, 2019
Multiple endocrine neoplasia, type 125Jan 6, 2022
Multiple endocrine neoplasia, type 24Jan 6, 2022
Multiple endocrine neoplasia, type 2a6May 13, 2020
Multiple endocrine neoplasia, type 2b1Sep 1, 2021
Multiple fibrofolliculomas4Nov 16, 2021
Multiple sulfatase deficiency7Dec 2, 2020
Nemaline myopathy47Dec 21, 2021
Neonatal diabetes mellitus28Nov 17, 2015
Neonatal severe hyperparathyroidism1Nov 10, 2020
Nephrogenic diabetes insipidus21Nov 17, 2015
Nephronophthisis 131Dec 21, 2021
Nephronophthisis 31Dec 21, 2021
Nephronophthisis 41Mar 6, 2020
Nephrotic syndrome, type 218Oct 22, 2021
Nephrotic syndrome, type 71Dec 31, 2020
Neurodegeneration with brain iron accumulation3Sep 1, 2021
Neurodegeneration with brain iron accumulation 51Mar 6, 2020
Neurodevelopmental disorder1Mar 6, 2020
Neurofibromatosis, type 117Mar 17, 2021
Neurofibromatosis, type 23Feb 26, 2021
Neuronal ceroid lipofuscinosis38Jan 6, 2022
Neuronal ceroid lipofuscinosis 15Mar 6, 2020
Neuronal ceroid lipofuscinosis 35Mar 6, 2020
Neuronal ceroid lipofuscinosis 54Mar 6, 2020
Neuronal ceroid lipofuscinosis 83May 19, 2021
Neutral 1 amino acid transport defect1Apr 29, 2020
Nicolaides-Baraitser syndrome1Mar 6, 2020
Niemann-Pick disease, type A14Oct 22, 2021
Niemann-Pick disease, type B7May 19, 2021
Niemann-Pick disease, type C33Jan 6, 2022
Nijmegen breakage syndrome-like disorder2Feb 9, 2021
Non-ketotic hyperglycinemia22Jan 6, 2022
Non-syndromic X-linked intellectual disability1Oct 22, 2020
Nonsyndromic Deafness1Mar 6, 2020
Nonsyndromic hearing loss and deafness6Nov 16, 2021
Noonan syndrome4Sep 24, 2019
Noonan syndrome 322Sep 24, 2019
Noonan syndrome with multiple lentigines3Jan 6, 2022
Noonan syndrome-like disorder with loose anagen hair1Sep 1, 2021
O'Donnell-Luria-Rodan syndrome1Mar 6, 2020
Obesity10Nov 17, 2015
Opitz GBBB syndrome, type I1Jun 17, 2021
Ornithine aminotransferase deficiency1Oct 22, 2021
Ornithine carbamoyltransferase deficiency14Oct 22, 2021
Osteochondrodysplasia16Nov 16, 2021
Osteogenesis imperfecta66Dec 21, 2021
Osteopetrosis5Sep 1, 2021
Osteoporosis with pseudoglioma1Nov 17, 2015
PIK3CA related overgrowth spectrum1Feb 9, 2021
POLG-Related Spectrum Disorders2Dec 21, 2021
POLR1C-Related Disorders1Jan 6, 2022
POLR3-related leukodystrophy1Mar 6, 2020
PTEN hamartoma tumor syndrome1Dec 31, 2020
Palmoplantar keratoderma-deafness syndrome1Jan 25, 2018
Parathyroid carcinoma1Apr 24, 2019
Parkinson disease 8, autosomal dominant1Jan 6, 2022
Pendred syndrome6Nov 16, 2021
Peroxisome biogenesis disorder62Jan 6, 2022
Peutz-Jeghers syndrome11Oct 22, 2021
Phenylketonuria122Jan 6, 2022
Pheochromocytoma2Aug 18, 2011
Phosphoglycerate dehydrogenase deficiency2Jan 6, 2022
Pigmentary pallidal degeneration2Oct 22, 2021
Pili torti-deafness syndrome1Aug 6, 2020
Pitt-Hopkins-like syndrome 11Dec 21, 2021
Pituitary hormone deficiency, combined5Aug 18, 2011
Pneumothorax, primary spontaneous3Apr 24, 2019
Polyarteritis nodosa, childhoood-onset1Dec 2, 2020
Polycystic kidney disease, adult type1Jun 17, 2021
Polyglandular autoimmune syndrome, type 116Dec 31, 2020
Pontoneocerebellar hypoplasia10Jan 6, 2022
Postmenopausal osteoporosis2Aug 18, 2011
Pretibial dystrophic epidermolysis bullosa1Mar 6, 2020
Primary autosomal recessive microcephaly5Apr 29, 2020
Primary congenital glaucoma3Jun 17, 2021
Primary dilated cardiomyopathy8Nov 20, 2015
Primary familial dilated cardiomyopathy13Jan 6, 2022
Primary familial hypertrophic cardiomyopathy61Jan 6, 2022
Primary hyperoxaluria19Aug 5, 2021
Primary hyperoxaluria, type II6Oct 22, 2021
Primary hyperoxaluria, type III3Jan 6, 2022
Progressive familial intrahepatic cholestasis5Jan 6, 2022
Propionic acidemia33Jan 6, 2022
Pseudo-Hurler polydystrophy1Jan 25, 2018
Pyruvate dehydrogenase complex deficiency1Jan 25, 2018
Rapadilino syndrome3Sep 1, 2021
Rasopathy82Nov 16, 2021
Renal carnitine transport defect24Jul 7, 2021
Renal cysts and diabetes syndrome20Aug 18, 2011
Renal hypodysplasia/aplasia 31Apr 29, 2020
Renal tubular acidosis with progressive nerve deafness1Dec 21, 2021
Retinitis pigmentosa6Nov 16, 2021
Retinitis pigmentosa 591Jan 25, 2018
Retinoblastoma1Jan 6, 2022
Rett syndrome39Oct 22, 2021
Rhizomelic chondrodysplasia punctata1Jun 17, 2021
Rhizomelic chondrodysplasia punctata type 111Dec 21, 2021
Rothmund-Thomson syndrome type 23Sep 1, 2021
Rubinstein-Taybi syndrome 11Jun 17, 2021
SHORT syndrome1Mar 6, 2020
SIM1-Related Disorders1Dec 2, 2020
Salla disease10Feb 9, 2021
Sandhoff disease21Dec 21, 2021
Sanfilippo syndrome17Feb 26, 2021
Schwannomatosis3Oct 6, 2020
Severe X-linked myotubular myopathy2May 19, 2021
Severe combined immunodeficiency disease59Jan 6, 2022
Severe combined immunodeficiency due to ADA deficiency3Jan 25, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Mar 6, 2020
Severe myoclonic epilepsy in infancy6Jan 25, 2018
Short stature, brachydactyly, intellectual developmental disability, and seizures1Jul 1, 2020
Short stature, idiopathic, X-linked5Nov 17, 2015
Sialidosis5Jan 6, 2022
Sickle cell disease and related diseases1Mar 6, 2020
Sickle cell-Hemoglobin O Arab disease1Jan 25, 2018
Sjögren-Larsson syndrome14May 19, 2021
Skin creases, congenital symmetric circumferential, 21Apr 24, 2019
Skraban-Deardorff syndrome1Apr 29, 2020
Smith-Lemli-Opitz syndrome30May 19, 2021
Sorbitol dehydrogenase deficiency with peripheral neuropathy1Dec 21, 2021
Sotos syndrome 22Mar 6, 2020
Spastic paraplegia 4, autosomal dominant1Jan 6, 2022
Spastic paraplegia 46, autosomal recessive2Dec 31, 2020
Sphingomyelin/cholesterol lipidosis4Aug 5, 2021
Spinal muscular atrophy6Oct 6, 2020
Spinocerebellar ataxia 471Mar 6, 2020
Spinocerebellar ataxia type 51Mar 6, 2020
Spondylocostal dysostosis 1, autosomal recessive1Apr 24, 2019
Stargardt disease2Apr 29, 2020
Stickler syndrome1Apr 29, 2020
Succinate-semialdehyde dehydrogenase deficiency1Apr 7, 2021
Supravalvar aortic stenosis1Dec 2, 2020
Tay-Sachs disease48Jan 6, 2022
Three M syndrome 21Mar 6, 2020
Thrombocytopenia 13Jan 25, 2018
Thyroid dyshormonogenesis 61Apr 24, 2019
Thyroid hormone resistance, generalized, autosomal dominant1Jan 6, 2022
Trichohepatoenteric syndrome1Aug 5, 2021
Trichothiodystrophy1Jul 1, 2020
Tuberous sclerosis syndrome3Oct 22, 2021
Turcot syndrome2Mar 6, 2020
Tyrosinemia type I13Feb 9, 2021
UDPglucose-4-epimerase deficiency1Nov 16, 2021
Usher Syndrome, Type III4Apr 24, 2019
Usher syndrome28Jan 6, 2022
Usher syndrome type 1F9Jan 6, 2022
Verheij syndrome1Nov 16, 2021
Very long chain acyl-CoA dehydrogenase deficiency27Jan 6, 2022
Von Hippel-Lindau syndrome64Jan 6, 2022
Werner syndrome1Oct 22, 2021
Wilson disease141Nov 16, 2021
Wiskott-Aldrich syndrome15Mar 17, 2021
Wolfram syndrome 11Jan 6, 2022
X-Linked Lymphoproliferative Syndrome2Apr 24, 2019
X-linked agammaglobulinemia31Dec 21, 2021
X-linked severe combined immunodeficiency12Oct 6, 2020
X-linked severe congenital neutropenia1Dec 31, 2020
Xeroderma pigmentosum31Dec 21, 2021
beta Thalassemia84Aug 5, 2021
not provided2906Jan 25, 2018
not specified12733Jan 6, 2022
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